More Antibodies against LEPRE1 Interaction Partners

P3H1 deficiency leads to decreased deposition of extracellular matrix by osteoblasts and increased incorporation of mineral into the matrix.

we generated knock-in mice carrying a single amino acid substitution in the catalytic site of P3h1 (Lepre1(H662A) ). This substitution abolished P3h1 activity but retained ability to form a complex with Crtap (show CRTAP Antibodies) and thus the collagen chaperone

This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP (show CRTAP Antibodies), and PPIB (show PPIB Antibodies) genes. LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI.

We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (show COL1A2 Antibodies) (OI) due to a novel homozygous LEPRE1 mutation

LEPRE1 Antigen Profile

Protein Summary

This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined.